Incidental Mutation 'R6848:Scpppq1'
ID 534852
Institutional Source Beutler Lab
Gene Symbol Scpppq1
Ensembl Gene ENSMUSG00000091034
Gene Name secretory calcium-binding phosphoprotein proline-glutamine rich 1
Synonyms Gm17660
MMRRC Submission 045022-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6848 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 104217930-104225474 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 104222603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031249] [ENSMUST00000164471] [ENSMUST00000178967] [ENSMUST00000198485]
AlphaFold B9UIU9
Predicted Effect probably benign
Transcript: ENSMUST00000031249
SMART Domains Protein: ENSMUSP00000031249
Gene: ENSMUSG00000029309

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 70 81 N/A INTRINSIC
low complexity region 90 101 N/A INTRINSIC
low complexity region 192 210 N/A INTRINSIC
low complexity region 330 340 N/A INTRINSIC
low complexity region 372 381 N/A INTRINSIC
FOLN 418 441 2.33e-5 SMART
KAZAL 441 495 3.62e-11 SMART
Pfam:SPARC_Ca_bdg 498 636 2.8e-44 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000164471
AA Change: F43L
SMART Domains Protein: ENSMUSP00000132880
Gene: ENSMUSG00000091034
AA Change: F43L

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 36 62 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000178967
AA Change: F43L
SMART Domains Protein: ENSMUSP00000136896
Gene: ENSMUSG00000091034
AA Change: F43L

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 36 62 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000198485
AA Change: F43L
SMART Domains Protein: ENSMUSP00000143623
Gene: ENSMUSG00000091034
AA Change: F43L

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 36 62 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 T C 11: 69,775,487 (GRCm39) N290S probably damaging Het
Acox3 G T 5: 35,749,528 (GRCm39) G218C probably damaging Het
Acsf3 G A 8: 123,517,329 (GRCm39) G375D probably damaging Het
Adamts9 G T 6: 92,840,335 (GRCm39) N568K possibly damaging Het
Akr1cl G A 1: 65,063,928 (GRCm39) T87I probably damaging Het
Brcc3dc A T 10: 108,535,451 (GRCm39) V168E probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Casp16 A T 17: 23,770,053 (GRCm39) C175* probably null Het
Cast T C 13: 74,844,052 (GRCm39) K694R possibly damaging Het
Cep70 G A 9: 99,144,954 (GRCm39) R100H probably benign Het
Cep72 C T 13: 74,186,395 (GRCm39) A259T possibly damaging Het
Chsy1 T A 7: 65,820,785 (GRCm39) M340K probably damaging Het
Col27a1 T C 4: 63,220,608 (GRCm39) S182P probably benign Het
Crlf2 A C 5: 109,704,897 (GRCm39) F103V possibly damaging Het
Dync2h1 T C 9: 7,159,632 (GRCm39) N652S probably benign Het
Ephx4 G A 5: 107,574,784 (GRCm39) G274D probably damaging Het
Fer T A 17: 64,298,601 (GRCm39) F517I probably damaging Het
Fsip2 A T 2: 82,813,131 (GRCm39) H3150L probably benign Het
Gata3 T A 2: 9,863,339 (GRCm39) N392Y possibly damaging Het
Gria4 C T 9: 4,793,822 (GRCm39) V79M probably damaging Het
Grk3 A C 5: 113,133,641 (GRCm39) N60K probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igf1r T G 7: 67,653,927 (GRCm39) I155R probably damaging Het
Igsf9 T C 1: 172,323,329 (GRCm39) L681P probably damaging Het
Intu T C 3: 40,648,685 (GRCm39) M789T probably benign Het
Kit A T 5: 75,767,872 (GRCm39) Q85L probably benign Het
Klhdc2 T A 12: 69,355,750 (GRCm39) C325* probably null Het
Mcidas A G 13: 113,130,419 (GRCm39) E5G probably benign Het
Mcm5 G T 8: 75,853,918 (GRCm39) R724L possibly damaging Het
Nrbp2 G A 15: 75,963,332 (GRCm39) probably benign Het
Nrg1 A G 8: 32,308,084 (GRCm39) I655T probably damaging Het
Nsun4 T C 4: 115,910,131 (GRCm39) D143G possibly damaging Het
Opn3 C T 1: 175,490,615 (GRCm39) V349M probably damaging Het
Or51ag1 A G 7: 103,155,664 (GRCm39) V163A possibly damaging Het
Or5d47 A T 2: 87,804,514 (GRCm39) V165E possibly damaging Het
Or6d14 T C 6: 116,533,736 (GRCm39) S117P probably damaging Het
Pank2 C A 2: 131,124,546 (GRCm39) L297I probably damaging Het
Pcdh20 T A 14: 88,704,690 (GRCm39) E870V probably benign Het
Pdcd6 T A 13: 74,457,959 (GRCm39) M71L possibly damaging Het
Phkb A T 8: 86,756,246 (GRCm39) I847F probably damaging Het
Psmb1 A G 17: 15,697,509 (GRCm39) F202S probably benign Het
Pwp2 C G 10: 78,020,127 (GRCm39) probably null Het
Rbms3 A G 9: 117,080,809 (GRCm39) Y21H probably damaging Het
Rhbdl1 T A 17: 26,055,158 (GRCm39) K17* probably null Het
Rp1l1 C A 14: 64,265,667 (GRCm39) Q418K possibly damaging Het
Slc22a4 A T 11: 53,898,615 (GRCm39) V159E possibly damaging Het
Spata31d1a T C 13: 59,849,777 (GRCm39) T784A possibly damaging Het
Tll1 A G 8: 64,551,544 (GRCm39) M279T probably damaging Het
Tmem163 A T 1: 127,479,117 (GRCm39) V134D probably damaging Het
Top2b A G 14: 16,409,958 (GRCm38) N875S possibly damaging Het
Tpd52l1 T C 10: 31,208,853 (GRCm39) E205G probably benign Het
Tpsb2 T A 17: 25,586,802 (GRCm39) Y271* probably null Het
Ugt3a1 G A 15: 9,280,138 (GRCm39) probably null Het
Vmn2r67 T C 7: 84,801,840 (GRCm39) M154V probably benign Het
Zfp740 T G 15: 102,117,243 (GRCm39) I89S probably benign Het
Other mutations in Scpppq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02128:Scpppq1 APN 5 104,222,569 (GRCm39) critical splice donor site probably null
R0499:Scpppq1 UTSW 5 104,222,747 (GRCm39) nonsense probably null
R1707:Scpppq1 UTSW 5 104,222,099 (GRCm39) unclassified probably benign
R6543:Scpppq1 UTSW 5 104,222,741 (GRCm39) unclassified probably benign
R7375:Scpppq1 UTSW 5 104,219,123 (GRCm39) splice site probably null
R8711:Scpppq1 UTSW 5 104,219,956 (GRCm39) missense unknown
RF005:Scpppq1 UTSW 5 104,222,725 (GRCm39) critical splice donor site probably null
RF024:Scpppq1 UTSW 5 104,222,725 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGCCAATATCTCCCGTGTTC -3'
(R):5'- AACGGATACAGCTTCCAGC -3'

Sequencing Primer
(F):5'- AATATCTCCCGTGTTCTCTGCAC -3'
(R):5'- AGCTGCTTCACCGTGTTG -3'
Posted On 2018-09-12